Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LMX1A_chr1_165196867_165361715	165337888	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG02258.hp2 others(10): Show HG01433.hp1 HG01884.hp1 HG02258.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 others(6): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0027 a0001c0003t0004 a0001c0003t0020 a0001c0003t0033 a0001c0003t0035	a0001c0001t0004g0019 a0001c0001t0010g0007 a0001c0001t0010g0008 others(10): Show a0001c0001t0004g0019 a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0014g0063 a0001c0001t0019g0224 a0001c0001t0027g0017 a0001c0003t0004g0023 a0001c0003t0004g0042 a0001c0003t0004g0119 a0001c0003t0004g0120 a0001c0003t0020g0219 a0001c0003t0033g0213 a0001c0003t0035g0223	13	288	0.0451	22	c.263 others(41): Show c.263+15187_263+15188insCACACACACACACACACACACA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8			chr1	TogoVar
LMX1B_chr9_126608928_126706032	126614345	G G	GGGGCCGC others(15): Show GGGGCCGCGCCTCCCCGGTTCCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0076	a0001c0002t0076g0088 a0001c0002t0076g0088	1	342	0.0029	22	c.-96 others(29): Show c.-96_-75dupCCTCCCCGGTTCCAGGGCCGCG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	1/8	74	INFO_REALIGN_3_PRIME	chr9	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp2 HG02109.hp2 others(3): Show HG01109.hp1 HG01943.hp2 HG02109.hp2 HG02273.hp1 HG03831.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0090 a0004c0004t0014	a0001c0001t0005g0106 a0001c0001t0005g0114 a0001c0001t0010g0338 others(3): Show a0001c0001t0005g0106 a0001c0001t0005g0114 a0001c0001t0010g0338 a0001c0001t0014g0348 a0001c0001t0090g0349 a0004c0004t0014g0347	6	368	0.0163	22	c.494 others(39): Show c.494-3914_494-3893dupATATATATATATATATATATAT	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175970504	G G	GGCCTCCA others(15): Show GGCCTCCAATATGACTCATTTAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0290 a0001c0001t0075g0290	1	368	0.0027	22	c.357 others(37): Show c.357+238_357+259dupGTAAATGAGTCATATTGGAGGC	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	6/12			chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03710.hp2 NA18978.hp1 others(1): Show HG02083.hp2 HG03710.hp2 NA18978.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0013 a0001c0014t0019 a0001c0001t0001 a0001c0001t0013 a0001c0014t0019	a0001c0001t0001g0035 a0001c0001t0001g0293 a0001c0001t0013g0351 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0293 a0001c0001t0013g0351 a0001c0014t0019g0157	4	356	0.0112	22	c.135 others(41): Show c.1350+3495_1350+3516dupTCTCTCTCTCTCTCTCTCTCTC	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53495548	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA21309.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0107 a0001c0001t0009g0124 a0001c0001t0009g0107 a0001c0001t0009g0124	2	356	0.0056	22	c.135 others(39): Show c.1350+474_1350+475insAAAAAAAAAAAAAAAAAAAAAA	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53506856	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02895.hp2 HG02683.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0275 a0001c0001t0002g0171 a0001c0001t0002g0275	2	356	0.0056	22	c.775 others(37): Show c.775+460_775+461insTTTTTTTTTTTTTTTTTTTTTT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	4/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53529102	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01934.hp2 HG02004.hp1 others(10): Show HG01070.hp1 HG01934.hp2 HG02004.hp1 HG02129.hp2 HG02273.hp2 HG02602.hp2 HG03130.hp2 NA18940.hp2 NA18945.hp2 NA18998.hp1 NA19070.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0140 others(10): Show a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0267 a0001c0001t0001g0330 a0001c0001t0003g0089 a0001c0001t0003g0232 a0001c0001t0003g0253 a0001c0001t0009g0118	13	356	0.0365	22	c.381 others(41): Show c.381-20897_381-20876dupGTGTGTGTGTGTGTGTGTGTGT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	2/10			chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0250 a0001c0001t0034g0250	1	358	0.0028	22	c.122 others(39): Show c.1225-581_1225-580insTATATATATATATATATATATA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTGTGTAT others(15): Show GTGTGTATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp1 others(39): Show HG00099.hp1 HG00423.hp2 HG00621.hp1 HG02145.hp2 HG02165.hp1 HG02293.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG04199.hp2 NA18747.hp2 NA18947.hp1 NA18949.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18992.hp2 NA18995.hp1 NA19012.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19078.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0030 a0005c0006t0003 a0001c0001t0003 a0001c0001t0030 a0005c0006t0003	a0001c0001t0003g0001 a0001c0001t0003g0193 a0001c0001t0003g0275 others(36): Show a0001c0001t0003g0001 a0001c0001t0003g0193 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0326 a0001c0001t0030g0302 a0005c0006t0003g0279	42	358	0.1173	22	c.122 others(39): Show c.1225-581_1225-580insTATATATATATACACATACACA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583251	T T	TGCGCGCG others(15): Show TGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	358	0.0028	22	c.-10 others(41): Show c.-100-1449_-100-1448insGCGCGCGCGCGCGCGCGCGCGC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGCGCG others(15): Show TGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	358	0.0028	22	c.-10 others(41): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCAC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LOC122319436_chr2_222309148_222325155	222323434	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0000 a0001c0001t0024g0000	2	440	0.0046	22	c.-33 others(33): Show c.-3370_-3369insATATATATATATATATATATTT	LOC122319436	ENSG00000288658.2	transcript	ENST00000678139.2	protein_coding		3280		chr2	TogoVar
LOC128092251_chr1_89574592_89584654	89577818	A A	AAACCCAG others(15): Show AAACCCAGTTATAATGCAGTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03704.hp2 HG03239.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	406	0.0049	22	c.-17 others(33): Show c.-1774_-1773insAACCCAGTTATAATGCAGTTAT	LOC128092251	ENSG00000288629.1	transcript	ENST00000676334.1	protein_coding		1773		chr1	TogoVar
LOC128092252_chr15_50643802_50691717	50679538	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0365 a0001c0001t0000g0365	1	388	0.0026	22	c.187 others(39): Show c.187+6992_187+6993insAAAAAAAAAAAAAAAAAATATA	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128092252_chr15_50643802_50691717	50679538	A A	ATATTTTT others(15): Show ATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0364 a0001c0001t0000g0364	1	388	0.0026	22	c.187 others(39): Show c.187+6992_187+6993insAAAAAAAAAAAAAAAAAAAATA	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128092252_chr15_50643802_50691717	50681264	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0024 a0001c0001t0000g0367 a0001c0001t0000g0024 a0001c0001t0000g0367	2	388	0.0052	22	c.187 others(39): Show c.187+5245_187+5266dupGTGTGTGTGTGTGTGTGTGTGT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128462377_chr16_89312046_89423292	89384879	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02293.hp1 NA19012.hp2 HG01070.hp1 HG02293.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0267 a0001c0001t0000g0333 a0001c0001t0000g0001 a0001c0001t0000g0267 a0001c0001t0000g0333	3	366	0.0082	22	c.9+3 others(37): Show c.9+33383_9+33404dupAAAAAAAAAAAAAAAAAAAAAA	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp1 HG03516.hp2 others(11): Show HG01257.hp1 HG01358.hp1 HG03516.hp2 HG03540.hp2 HG04115.hp2 NA18947.hp1 NA18967.hp2 NA18982.hp2 NA18993.hp1 NA19010.hp1 NA19062.hp2 NA19066.hp1 NA19067.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0136 a0001c0001t0000g0137 a0001c0001t0000g0138 others(11): Show a0001c0001t0000g0136 a0001c0001t0000g0137 a0001c0001t0000g0138 a0001c0001t0000g0139 a0001c0001t0000g0140 a0001c0001t0000g0141 a0001c0001t0000g0142 a0001c0001t0000g0143 a0001c0001t0000g0144 a0001c0001t0000g0145 a0001c0001t0000g0146 a0001c0001t0000g0147 a0001c0001t0000g0148 a0001c0001t0000g0218	14	366	0.0383	22	c.9+2 others(35): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128706665_chr20_10408708_10439222	10427029	G G	GACACACA others(15): Show GACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	408	0.0025	22	c.-21 others(39): Show c.-21-6272_-21-6271insGTGTGTGTGTCTGTGTGTGTGT	LOC128706665	ENSG00000285723.2	transcript	ENST00000649912.2	protein_coding	1/2			chr20	TogoVar
LOC128706666_chr20_10408708_10439222	10427029	G G	GACACACA others(15): Show GACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	408	0.0025	22	c.-27 others(41): Show c.-275-6272_-275-6271insGTGTGTGTGTCTGTGTGTGTGT	LOC128706666	ENSG00000285508.2	transcript	ENST00000713549.1	protein_coding	1/2			chr20	TogoVar
LOC400499_chr16_11367015_11532247	11369976	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0253 a0253	a0253c0270 a0253c0270	a0253c0270t0002 a0253c0270t0002	a0253c0270t0002g0292 a0253c0270t0002g0292	1	310	0.0032	22	c.27 others(33): Show c.2757_*2758insTATATATATATATATATATATA	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding		2038		chr16	TogoVar
LOC400499_chr16_11367015_11532247	11369980	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0159 a0159	a0159c0230 a0159c0230	a0159c0230t0012 a0159c0230t0012	a0159c0230t0012g0224 a0159c0230t0012g0224	1	310	0.0032	22	c.27 others(33): Show c.2753_*2754insCATATATATATATATATATATA	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding		2034		chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499213	G G	GGGGGGAA others(15): Show GGGGGGAAGGGAGGCAGAGGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0144 a0144	a0144c0164 a0144c0164	a0144c0164t0004 a0144c0164t0004	a0144c0164t0004g0178 a0144c0164t0004g0178	1	310	0.0032	22	c.124 others(41): Show c.1245+1569_1245+1590dupTCCCCTCTGCCTCCCTTCCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499300	G G	GGGGAGGG others(15): Show GGGGAGGGGGGAAGGGAGGCAGA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0121 a0121	a0121c0151 a0121c0151	a0121c0151t0001 a0121c0151t0001	a0121c0151t0001g0197 a0121c0151t0001g0197	1	310	0.0032	22	c.124 others(41): Show c.1245+1503_1245+1504insTCTGCCTCCCTTCCCCCCTCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66			chr16	TogoVar
LONP1_chr19_5686834_5725146	5694638	C C	CGGGCGCG others(15): Show CGGGCGCGGGGTGGTGGGGTGAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01070.hp1 others(9): Show HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01433.hp1 HG02602.hp2 HG03486.hp1 HG03704.hp2 HG04184.hp1 HG04228.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0110 a0001c0001t0001g0233 a0001c0001t0001g0355	12	386	0.0311	22	c.215 others(38): Show c.2154+101_2155-87dupATCACCCCACCACCCCGCGCCC	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	14/17			chr19	TogoVar
LONP1_chr19_5686834_5725146	5716259	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18966.hp2 HG02080.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0083 a0001c0001t0001g0082 a0001c0001t0002g0083	2	386	0.0052	22	c.430 others(39): Show c.430-2010_430-1989dupATATATATATATATATATATAT	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	1/17			chr19	TogoVar
LONRF1_chr8_12716906_12760526	12758768	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0235 a0001c0001t0001g0045 a0001c0001t0001g0235	2	404	0.0050	22	c.-33 others(33): Show c.-3349_-3348insAGAGAGAGAGAGAGAGAGAGAG	LONRF1	ENSG00000154359.13	transcript	ENST00000398246.8	protein_coding		3243		chr8	TogoVar
LORICRIN_chr1_153254687_153267124	153256514	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03579.hp1 HG02451.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	2	422	0.0047	22	c.-32 others(33): Show c.-3243_-3242insTATATATATATATATATATATA	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		3172		chr1	TogoVar
LOXHD1_chr18_46472273_46662220	46545627	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03491.hp2 NA18522.hp2 others(1): Show HG03130.hp1 HG03491.hp2 NA18522.hp2 NA18982.hp1	a0001 a0024 a0036 others(1): Show a0001 a0024 a0036 a0037	a0001c0001 a0024c0038 a0036c0062 others(1): Show a0001c0001 a0024c0038 a0036c0062 a0037c0059	a0001c0001t0001 a0024c0038t0001 a0036c0062t0001 others(1): Show a0001c0001t0001 a0024c0038t0001 a0036c0062t0001 a0037c0059t0001	a0001c0001t0001g0130 a0024c0038t0001g0045 a0036c0062t0001g0208 others(1): Show a0001c0001t0001g0130 a0024c0038t0001g0045 a0036c0062t0001g0208 a0037c0059t0001g0221	4	270	0.0148	22	c.351 others(39): Show c.3515-207_3515-206insAAAAAAAAAAAAAAAAAAAAAA	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	22/40			chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46574388	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG02630.hp2 others(13): Show HG00544.hp2 HG00673.hp1 HG02630.hp2 HG02922.hp2 HG03831.hp1 HG04199.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA19002.hp2 NA19010.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0020 a0032 a0047	a0001c0001 a0001c0009 a0002c0002 others(4): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0020c0017 a0032c0068 a0047c0067	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0002t0001 a0004c0004t0001 a0020c0017t0002 a0032c0068t0001 a0047c0067t0001	a0001c0001t0001g0078 a0001c0001t0001g0135 a0001c0001t0001g0141 others(13): Show a0001c0001t0001g0078 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0002g0035 a0001c0009t0001g0059 a0001c0009t0001g0081 a0001c0009t0001g0082 a0002c0002t0001g0191 a0002c0002t0001g0249 a0004c0004t0001g0065 a0020c0017t0002g0004 a0020c0017t0002g0005 a0032c0068t0001g0216 a0047c0067t0001g0198	16	270	0.0593	22	c.197 others(41): Show c.1971-2248_1971-2227dupGTGTGTGTGTGTGTGTGTGTGT	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	14/40			chr18	TogoVar
LOXL2_chr8_23291897_23409120	23328709	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG03209.hp1 others(2): Show HG02258.hp1 HG02280.hp2 HG03209.hp1 HG03471.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0013 others(2): Show a0001c0002 a0001c0003 a0001c0013 a0002c0010 a0002c0014	a0001c0002t0015 a0001c0003t0001 a0001c0013t0001 others(2): Show a0001c0002t0015 a0001c0003t0001 a0001c0013t0001 a0002c0010t0001 a0002c0014t0005	a0001c0002t0015g0137 a0001c0003t0001g0152 a0001c0013t0001g0081 others(2): Show a0001c0002t0015g0137 a0001c0003t0001g0152 a0001c0013t0001g0081 a0002c0010t0001g0088 a0002c0014t0005g0201	5	348	0.0144	22	c.967 others(37): Show c.967-166_967-145dupCACACACACACACACACACACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	5/13			chr8	TogoVar
LOXL4_chr10_98242690_98273194	98268404	C C	CGGGGGGC others(15): Show CGGGGGGCGGGGGGAGCGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG01515.hp2 others(5): Show HG00323.hp2 HG01175.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02818.hp1 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001	a0001c0002t0001g0109 a0001c0002t0006g0107 a0001c0004t0001g0005 others(1): Show a0001c0002t0001g0109 a0001c0002t0006g0107 a0001c0004t0001g0005 a0001c0004t0001g0016	8	438	0.0183	22	c.-30 others(31): Show c.-306_-305insCCCCCCGCTCCCCCCGCCCCCC	LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding		211		chr10	TogoVar
LOXL4_chr10_98242690_98273194	98268411	C C	CGGGGGGA others(15): Show CGGGGGGAGCGGGGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	438	0.0023	22	c.-31 others(31): Show c.-313_-312insCGCCCCCCCCCCCGCTCCCCCC	LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding		218		chr10	TogoVar
LOXL4_chr10_98242690_98273194	98268420	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGCGGGGGGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	438	0.0023	22	c.-32 others(31): Show c.-322_-321insCGCTCCCCCCGCCCCCCCCCCC	LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding		227		chr10	TogoVar
LPA_chr6_160526482_160669275	160553954	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0023 a0023	a0023c0038 a0023c0038	a0023c0038t0001 a0023c0038t0001	a0023c0038t0001g0047 a0023c0038t0001g0047	1	148	0.0068	22	c.497 others(41): Show c.4973+2070_4973+2071insGCGCGCGCGCGCACACACACAC	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160553954	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0050 a0003c0050	a0003c0050t0001 a0003c0050t0001	a0003c0050t0001g0056 a0003c0050t0001g0056	1	148	0.0068	22	c.497 others(41): Show c.4973+2070_4973+2071insGCGCGCACACACACACACACAC	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160553954	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02040.hp1 HG00642.hp1 HG02040.hp1	a0003 a0016 a0003 a0016	a0003c0003 a0016c0021 a0003c0003 a0016c0021	a0003c0003t0001 a0016c0021t0003 a0003c0003t0001 a0016c0021t0003	a0003c0003t0001g0074 a0016c0021t0003g0139 a0003c0003t0001g0074 a0016c0021t0003g0139	2	148	0.0135	22	c.497 others(41): Show c.4973+2070_4973+2071insGCGCACACACACACACACACAC	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160553954	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA20752.hp2 HG03688.hp1 NA20752.hp2	a0007 a0028 a0007 a0028	a0007c0012 a0028c0041 a0007c0012 a0028c0041	a0007c0012t0001 a0028c0041t0001 a0007c0012t0001 a0028c0041t0001	a0007c0012t0001g0115 a0028c0041t0001g0120 a0007c0012t0001g0115 a0028c0041t0001g0120	2	148	0.0135	22	c.497 others(41): Show c.4973+2070_4973+2071insGCACACACACACACACACACAC	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160555436	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03834.hp1 HG00639.hp2 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0057 a0003c0003t0001g0078 a0003c0003t0001g0057 a0003c0003t0001g0078	2	148	0.0135	22	c.497 others(39): Show c.4973+588_4973+589insATATATATATATATATATATAT	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPCAT4_chr15_34353633_34372196	34371786	G G	GGGGAGAG others(15): Show GGGGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02004.hp1 HG02055.hp1 others(7): Show HG00642.hp1 HG02004.hp1 HG02055.hp1 HG02451.hp1 NA18944.hp2 NA18953.hp2 NA18954.hp2 NA18980.hp2 NA18985.hp1 NA19062.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0001c0001t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0097 a0001c0001t0002g0038 a0005c0005t0001g0107	10	450	0.0222	22	c.-46 others(33): Show c.-4687_-4686insTCTCTCTCTCTCTCTCTCTCCC	LPCAT4	ENSG00000176454.15	transcript	ENST00000314891.11	protein_coding		4591		chr15	TogoVar
LPGAT1_chr1_211738457_211835763	211774132	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	332	0.0030	22	c.854 others(39): Show c.854+4785_854+4786insAAAAAAAAAAAAAAAAAAAAAA	LPGAT1	ENSG00000123684.13	transcript	ENST00000366997.9	protein_coding	6/7			chr1	TogoVar
LPIN2_chr18_2911999_3018144	2956311	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0028 a0001c0001t0031g0028	1	380	0.0026	22	c.193 others(39): Show c.193-1734_193-1713dupACACACACACACACACACACAC	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPIN2_chr18_2911999_3018144	2993154	A A	AAAGAAAG others(15): Show AAAGAAAGAAGAAAGGAAGAAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG03209.hp2 HG02717.hp2 HG02896.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0036 a0001c0001t0030 a0001c0001t0036	a0001c0001t0030g0183 a0001c0001t0036g0157 a0001c0001t0036g0158 a0001c0001t0030g0183 a0001c0001t0036g0157 a0001c0001t0036g0158	3	380	0.0079	22	c.-10 others(41): Show c.-10+19911_-10+19932dupCCTTCTTCCTTTCTTCTTTCTT	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	1/19			chr18	TogoVar
LPP_chr3_188149157_188895671	188213961	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03834.hp2 HG02738.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0049 a0001c0005t0040 a0001c0001t0049 a0001c0005t0040	a0001c0001t0049g0031 a0001c0005t0040g0030 a0001c0001t0049g0031 a0001c0005t0040g0030	2	76	0.0263	22	c.-18 others(43): Show c.-189-11425_-189-11404dupACACACACACACACACACACAC	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188248468	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19030.hp1 HG02622.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0002c0003t0023 a0001c0001t0008 a0002c0003t0023	a0001c0001t0008g0065 a0002c0003t0023g0001 a0001c0001t0008g0065 a0002c0003t0023g0001	2	76	0.0263	22	c.-67 others(41): Show c.-67+22950_-67+22971dupTATATATATATATATATATATA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188394551	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0004 a0003c0011t0004	a0003c0011t0004g0071 a0003c0011t0004g0071	1	76	0.0132	22	c.-9- others(39): Show c.-9-11550_-9-11529dupGTGTGTGTGTGTGTGTGTGTGT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188466804	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	76	0.0132	22	c.194 others(41): Show c.194-17787_194-17786insTATATATATATATATATATATA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188485796	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0027 a0002c0003t0013g0027	1	76	0.0132	22	c.306 others(39): Show c.306+1110_306+1111insAAAAAAAAAAAAAAAAAAAAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188495064	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0031 a0001c0001t0049g0031	1	76	0.0132	22	c.306 others(41): Show c.306+10379_306+10380insATATATATATATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)